PROJECT SUMMARY This proposal is in response to supplemental funding available to further NHGRI goals to develop initiatives that improve the understanding of relationships among variation, function, and disease. This proposed supplement will seek to determine the concordance of functional assay score of BRCA1 variants generated by saturation genome editing with sequencing lab pathogenicity classification in the eMERGE network. We will also attempt to determine the concordance of BRCA1 SNV functional classifications with clinical data in the eMERGE network. We will publicly share resulting evidence for the pathogenicity of each variant on ClinVar.